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Apr 23, 2024
Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial
Here, we report results of the first-in-human clinical trial (NCT04722107) of gene therapy for Bietti crystalline corneoretinal dystrophy
Mar 13, 2022
Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa
Aim of present study: screen for possible disease‑causing genetic variants in a non‑consanguineous Chinese family with non‑syndromic arRP.
May 30, 2012
Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa
22 subjects from a four generation Chinese family with RP, thin cornea, congenital cataract and high myopia is reported in this study
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